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Paper Details

Characterization of Chromosomal Abnormalities in Saudi Patients with Autism Syndrome *Corresponding author: Samia M Ahmed, 7Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Taibah University, AL-Madinah, Saudi Arabia. smmohammed@taibahu.edu.sa

Samaher S Alhjori1, Shifaa R Alhazmi2, Safiah O Albaghdadi3, Aisha A Alzaidi4, Sarwat M Khan5, Dimah Zaytuni6, Samia M Ahmed7*

Journal Title:Annals of Case Reports & Reviews
Abstract


Autism spectrum disorder (ASD) is a deficit that impairs the development of social skills, verbal and nonverbal communication, and repetitive patterns of behavior. This is the result of a neurological disorder that affects the manner in which information is collected and processed by the brain, causing problems in social skills. This study aimed to identify some aspects that might be involved in the pathogenesis of autism which is necessary for offering proper genetic counseling to families of autistic patients and their role in the diagnosis of autism in AlMadinah Almonawwarah. A total of 30 mothers of children who filled a questionnaire were enrolled in this study; 27 of those mothers had only one autistic child, whereas 3 mothers of them have two autistic children. Chromsomoal analysis was carried out for 18 patients participated including 9 autistic children and their mothers; all autistic children and their mothers showed normal karyotyping, only one autistic child (a sister twin) had heterochromatin in chromosome 16; actually, this child was not fully diagnosed ASD. This means that karyotyping is not enough for genetic diagnosis; but DNA sequencing may be more valuable. Furthermore, multidisciplinary approach that involves pediatrics, geneticists, neurologist and psychiatrist is required for diagnosis and management of autism cases.  

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